A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv829n172



Internal ID22815203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81839766..81844765hg38UCSC Ensembl
chr8:82752001..82757000hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4435571, nsv4435573
SamplesNB11, NB07, SMI018
Known GenesSNX16
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv829n172
Frequency
Sample Size15
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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